Código QR (código de barras bidimensional)

Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant

Preimplantation genetic testing (PGT) has been increasingly used to prevent rare inherited diseases. In this study, we report a case where PGT was used to prevent the transmission of disease-caused variant in a SCID-X1 (OMIM:300400) family. SCID-X1 is an X-linked recessive inherited disease whose ma...

Fuld beskrivelse

Na minha lista:
Principais autores: Jun Ren, Cuiting Peng, Fan Zhou, Yutong Li, Yuezhi Keqie, Han Chen, Hongmei Zhu, Xinlian Chen, Shanling Liu
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-06-01
Serier:Frontiers in Genetics
Fag:
preimplantation genetic testing
severe combined immune deficiency
IR2RG
haplotype
rare genetic disease
next generation sequencing
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2022.926060/full
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker